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Variant (rsID / SNP)

rs185980145

CSRP3

rs185980145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CSRP3. Location: chromosome 11, position 19,213,980. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CSRP3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:19213980
Cytoband
11p15.1
HGVS
NM_003476.5(CSRP3):c.16G>A (p.Gly6Arg)
Allele change
Missense_G6R

Associated conditions / phenotypes

Primary familial hypertrophic cardiomyopathy|Cardiomyopathy|Hypertrophic cardiomyopathy 12|Dilated cardiomyopathy 1M

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.